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Null Retinoschisin-Protein Expression from an RS1 c354del1-ins18 Mutation Causes Progressive and Severe XLRS in a Cross-Sectional Family Study

PURPOSE: Explore the retinoschisin (RS1) protein biochemical phenotype from an RS1 exon-5 deletion/insertion frame-shift mutation in an X-linked retinoschisis (XLRS) family and describe the clinical and electrophysiological features. METHODS: Six XLRS males underwent ophthalmologic examination and e...

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Bibliografische gegevens
Hoofdauteurs: Vijayasarathy, Camasamudram, Ziccardi, Lucia, Zeng, Yong, Smaoui, Nizar, Caruso, Rafael C., Sieving, Paul A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2784021/
https://ncbi.nlm.nih.gov/pubmed/19474399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-3839
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